Total 87 pathogenic variants reported for Spondylometaphyseal dysplasia - Sutcliffe type 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) SNV
Germline
Chr2:215406306 Pathogenic Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
FN1-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA126368 rs_137854488

6 SubmittersRCV000017722RCV002482881RCV004745163RCV005089267

NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) SNV
Germline
Chr12:47978659 Pathogenic Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
not specified
Type 2 collagenopathy
8 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA10588549 rs_886039542

7 SubmittersRCV000254943RCV001194467RCV002248493RCV002272197RCV005429009

NM_212482.4(FN1):c.778T>G (p.Cys260Gly) SNV
Germline
Chr2:215428246 Likely pathogenic Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Single Submitter
CA350473823 rs_1553658926

2 SubmittersRCV000509583RCV000755747

NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) SNV
Germline
Chr2:215428306 Likely pathogenic Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Single Submitter
CA350474250 rs_1553659131

4 SubmittersRCV000509587RCV000570760

NM_212482.4(FN1):c.675C>G (p.Cys225Trp) SNV
Germline
Chr2:215430725 Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350475275 rs_1181638652

4 SubmittersRCV000509585RCV000755737RCV003558392

NM_212482.4(FN1):c.367T>C (p.Cys123Arg) SNV
Germline
Chr2:215433372 Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Neurodevelopmental disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA350478685 rs_1553667072

6 SubmittersRCV000509582RCV000575065RCV002526994RCV005863165

NM_212482.4(FN1):c.260G>T (p.Cys87Phe) SNV
Germline
Chr2:215434713 Likely pathogenic Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Single Submitter
CA350480007 rs_1553669703

4 SubmittersRCV000509586RCV000566441

NM_212482.4(FN1):c.685+1G>C SNV
Germline
Chr2:215430714 Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type Criteria Provided
Single Submitter
CA350475233 rs_113683179

1 SubmittersRCV000790509

NM_212482.4(FN1):c.1361C>A (p.Ala454Asp) SNV
Germline
Chr2:215423382 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FN1-related disorder
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2095319 rs_147802150

6 SubmittersRCV000911176RCV003169284RCV004746152RCV005392540

NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) SNV
Germline
Chr2:215419304 Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2
Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2095177 rs_138219703

3 SubmittersRCV001007576RCV001860576RCV002479202

NM_212482.4(FN1):c.3130G>A (p.Val1044Met) SNV
Germline
Chr2:215404512 Conflicting classifications of pathogenicity Chronic kidney disease
Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094794 rs_34043251

3 SubmittersRCV001171334RCV001873581RCV002483933

NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) SNV
Germline
Chr12:47989795 Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA384555478 rs_1939617011

3 SubmittersRCV001194466RCV001231441

NM_212482.4(FN1):c.5735G>A (p.Arg1912His) SNV
Germline
Chr2:215376650 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094041 rs_775421803

3 SubmittersRCV001305158RCV002493599RCV004978283

NM_212482.4(FN1):c.141A>C (p.Gln47His) SNV
Germline
Chr2:215435662 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2095677 rs_145263539

2 SubmittersRCV001296732RCV002493561

NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) SNV
Germline
Chr2:215372117 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2093834 rs_755984905

2 SubmittersRCV001325835RCV002476531

NM_212482.4(FN1):c.1054G>A (p.Gly352Ser) SNV
Germline
Chr2:215424308 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2095383 rs_13306372

2 SubmittersRCV001320139RCV005014408

NM_212482.4(FN1):c.869G>A (p.Arg290His) SNV
Germline
Chr2:215425261 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2095435 rs_150990682

4 SubmittersRCV001320616RCV002499621RCV004035012

NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) SNV
Germline
Chr2:215375250 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2093945 rs_376754454

2 SubmittersRCV001345791RCV002499690

NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) SNV
Germline
Chr2:215388292 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094468 rs_146898035

3 SubmittersRCV001346852RCV002486415RCV003346503

NM_212482.4(FN1):c.3491C>T (p.Ala1164Val) SNV
Germline
Chr2:215397706 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094701 rs_183891852

3 SubmittersRCV001340007RCV002547393RCV005014451

NM_212482.4(FN1):c.1247A>G (p.Asn416Ser) SNV
Germline
Chr2:215423496 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2095325 rs_181283286

4 SubmittersRCV001348047RCV002504550RCV004036538RCV005863424

NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) SNV
Germline
Chr2:215399316 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094741 rs_753807100

3 SubmittersRCV001356595RCV002476632

NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn) SNV
Germline
Chr2:215375388 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2093969 rs_201097962

2 SubmittersRCV001363888RCV002476661

NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) SNV
Germline
Chr2:215379144 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094104 rs_375667567

3 SubmittersRCV001373480RCV002499769RCV004037569

NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) SNV
Germline
Chr2:215404581 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094807 rs_748276504

3 SubmittersRCV001359096RCV002493836RCV006377127

NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) SNV
Germline
Chr2:215422201 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2095286 rs_761729774

3 SubmittersRCV001372112RCV002493893RCV004980403

NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) SNV
Germline
Chr2:215406345 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094850 rs_565714281

4 SubmittersRCV001945195RCV002490282RCV002557678

NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) SNV
Germline
Chr2:215375319 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2093957 rs_372237449

2 SubmittersRCV002017880RCV002479766

NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) SNV
Germline
Chr2:215384113 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094320 rs_532827189

3 SubmittersRCV001904480RCV002489989RCV004980794

NM_212482.4(FN1):c.1715T>C (p.Ile572Thr) SNV
Germline
Chr2:215419346 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2095187 rs_150405747

3 SubmittersRCV001996419RCV005017048RCV005841946

NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) SNV
Germline
Chr2:215404493 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094792 rs_144581583

4 SubmittersRCV002010541RCV002642084RCV002507774

NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) SNV
Germline
Chr2:215409712 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2095051 rs_770505069

3 SubmittersRCV002492183RCV004976036RCV001964307

NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) SNV
Germline
Chr2:215406507 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
FN1-related disorder
Criteria Provided
Conflicting Classifications
CA2094888 rs_370342980

5 SubmittersRCV001999366RCV002486614RCV002642068RCV004746573

NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) SNV
Germline
Chr2:215384056 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094307 rs_766780476

3 SubmittersRCV001961828RCV005341101RCV002478151

NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) SNV
Germline
Chr2:215393134 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 1
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA64862431 rs_751026014

4 SubmittersRCV001932457RCV002482543RCV004980815RCV005863520

NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) SNV
Germline
Chr2:215375703 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
not specified
Criteria Provided
Conflicting Classifications
CA2094001 rs_201136367

3 SubmittersRCV002028963RCV002498023RCV005433602

NM_212482.4(FN1):c.665G>A (p.Arg222His) SNV
Germline
Chr2:215430735 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2095493 rs_778971356

2 SubmittersRCV001867664RCV002506922

NM_212482.4(FN1):c.587T>A (p.Val196Glu) SNV
Germline
Chr2:215430813 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2095512 rs_758442993

3 SubmittersRCV001878883RCV005014742RCV004980826

NM_212482.4(FN1):c.7070G>A (p.Arg2357His) SNV
Germline
Chr2:215365579 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2093662 rs_557049566

3 SubmittersRCV002002961RCV005017007RCV005565090

NM_212482.4(FN1):c.862G>A (p.Asp288Asn) SNV
Germline
Chr2:215425268 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2095438 rs_200731330

2 SubmittersRCV002011410RCV002486683

NM_212482.4(FN1):c.6157+4T>C SNV
Germline
Chr2:215375210 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2093937 rs_779209474

2 SubmittersRCV001879234RCV002490079

NM_212482.4(FN1):c.3199G>A (p.Val1067Met) SNV
Germline
Chr2:215404443 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094773 rs_145483591

2 SubmittersRCV001987225RCV002479505

NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) SNV
Germline
Chr2:215414907 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2095139 rs_199764052

3 SubmittersRCV001910048RCV002490248RCV002555728

NM_212482.4(FN1):c.6002G>A (p.Arg2001His) SNV
Germline
Chr2:215375369 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2093964 rs_749462589

2 SubmittersRCV001896382RCV002482727

NM_212482.4(FN1):c.6582G>A (p.Pro2194=) SNV
Germline
Chr2:215372041 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA64845077 rs_775428950

2 SubmittersRCV002183022RCV005017111

NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) SNV
Germline
Chr2:215408313 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094998 rs_199957523

3 SubmittersRCV002111164RCV002498322RCV004045772

NM_212482.4(FN1):c.261C>G (p.Cys87Trp) SNV
Germline
Chr2:215434712 Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350480002 rs_753456938

2 SubmittersRCV002240143RCV003698884

NM_212482.4(FN1):c.6261A>C (p.Gln2087His) SNV
Germline
Chr2:215372362 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2093879 rs_564795973

2 SubmittersRCV003080034RCV005021553

NM_212482.4(FN1):c.3448G>A (p.Val1150Ile) SNV
Germline
Chr2:215397749 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2094707 rs_767986025

3 SubmittersRCV002651603RCV005021665

NM_212482.4(FN1):c.5597C>T (p.Ser1866Leu) SNV
Germline
Chr2:215379155 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2094107 rs_750049518

3 SubmittersRCV002624496RCV005021640RCV006363308

NM_212482.4(FN1):c.4792G>A (p.Gly1598Ser) SNV
Germline
Chr2:215384122 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094323 rs_772920001

3 SubmittersRCV002573161RCV005025864

NM_212482.4(FN1):c.5391C>T (p.His1797=) SNV
Germline
Chr2:215380854 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094170 rs_763402272

2 SubmittersRCV002755035RCV005019350

NM_212482.4(FN1):c.6466A>G (p.Thr2156Ala) SNV
Germline
Chr2:215372157 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA64845303 rs_111523341

3 SubmittersRCV002805995RCV005027967RCV005834328

NM_212482.4(FN1):c.685+3A>G SNV
Germline
Chr2:215430712 Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type Criteria Provided
Single Submitter
CA2580065651 rs_2470507548

1 SubmittersRCV002790041

NM_212482.4(FN1):c.3091G>A (p.Val1031Met) SNV
Germline
Chr2:215404551 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA64868291 rs_954994232

3 SubmittersRCV003350252RCV003730555RCV005029999

NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu) SNV
Germline
Chr2:215372042 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2093815 rs_576918048

3 SubmittersRCV003369062RCV003778022RCV005030001

NM_212482.4(FN1):c.6175G>A (p.Glu2059Lys) SNV
Germline
Chr2:215373394 Conflicting classifications of pathogenicity FN1-related disorder
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2093913 rs_767081660

3 SubmittersRCV003420830RCV005030012RCV005061380

NM_212482.4(FN1):c.6878C>T (p.Thr2293Met) SNV
Germline
Chr2:215368003 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2093713 rs_750419825

3 SubmittersRCV003550991RCV005022026RCV006368291

NM_212482.4(FN1):c.1729G>A (p.Glu577Lys) SNV
Germline
Chr2:215419332 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2095185 rs_780026011

2 SubmittersRCV003550484RCV005022021

NM_212482.4(FN1):c.2866A>G (p.Ile956Val) SNV
Germline
Chr2:215406358 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094852 rs_778538491

3 SubmittersRCV003663066RCV004980895RCV005030139

NM_212482.4(FN1):c.3838G>A (p.Asp1280Asn) SNV
Germline
Chr2:215393162 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2094598 rs_764149816

2 SubmittersRCV003722400RCV005014893

NM_212482.4(FN1):c.1580T>A (p.Val527Glu) SNV
Germline
Chr2:215420768 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA64827489 rs_369339209

3 SubmittersRCV003726219RCV005014916RCV004621875

NM_212482.4(FN1):c.6479T>C (p.Ile2160Thr) SNV
Germline
Chr2:215372144 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2093841 rs_147627800

3 SubmittersRCV003734131RCV004980989RCV005014926

NM_212482.4(FN1):c.2806G>A (p.Gly936Ser) SNV
Germline
Chr2:215406418 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2094868 rs_756317039

3 SubmittersRCV003813941RCV004621915RCV005014984

NM_212482.4(FN1):c.1217-8C>A SNV
Germline
Chr2:215423534 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications
CA2095331 rs_1483052638

2 SubmittersRCV003820834RCV005014999

NM_212482.4(FN1):c.4654C>A (p.Pro1552Thr) SNV
Germline
Chr2:215384935 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA350479803 rs_149278155

4 SubmittersRCV003874881RCV004621940RCV005358045RCV005015074

NM_212482.4(FN1):c.6330G>C (p.Lys2110Asn) SNV
Germline
Chr2:215372293 Conflicting classifications of pathogenicity Condition: not provided
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA64845484 rs_908149134

3 SubmittersRCV003878713RCV005030350RCV005567698

NM_212482.4(FN1):c.6321A>C (p.Thr2107=) SNV
Germline
Chr2:215372302 Conflicting classifications of pathogenicity FN1-related disorder
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2093867 rs_774228554

4 SubmittersRCV003951581RCV005030364RCV005101838RCV006373164

NM_212482.4(FN1):c.4012G>A (p.Val1338Ile) SNV
Germline
Chr2:215392988 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications
CA2094554 rs_375642491

4 SubmittersRCV004389749RCV004759379RCV005023505

NM_212482.4(FN1):c.2627A>G (p.Tyr876Cys) SNV
Germline
Chr2:215407213 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598389RCV005002038

NM_212482.4(FN1):c.6721G>A (p.Val2241Ile) SNV
Germline
Chr2:215370426 Conflicting classifications of pathogenicity FN1-related disorder
Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004747869RCV005023672RCV005103744

NM_212482.4(FN1):c.938G>T (p.Gly313Val) SNV
Germline
Chr2:215425192 Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type Criteria Provided
Single Submitter

1 SubmittersRCV004813494

NM_212482.4(FN1):c.3047G>C (p.Arg1016Thr) SNV
Germline
Chr2:215404595 Conflicting classifications of pathogenicity Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004979946RCV005023767RCV006484408

NM_212482.4(FN1):c.3182A>C (p.Glu1061Ala) SNV
Germline
Chr2:215404460 Conflicting classifications of pathogenicity Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004979950RCV005017338

NM_212482.4(FN1):c.6475C>G (p.Pro2159Ala) SNV
Germline
Chr2:215372148 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018484RCV005112750

NM_212482.4(FN1):c.6248-18C>T SNV
Germline
Chr2:215372393 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024003RCV005063240

NM_212482.4(FN1):c.6060G>C (p.Arg2020Ser) SNV
Germline
Chr2:215375311 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005024006RCV005112751RCV005844392

NM_212482.4(FN1):c.5945G>A (p.Arg1982Gln) SNV
Germline
Chr2:215375661 Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018492RCV006631277

NM_212482.4(FN1):c.5773T>C (p.Trp1925Arg) SNV
Germline
Chr2:215376612 Likely pathogenic Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Criteria Provided
Single Submitter

1 SubmittersRCV005018493

NM_212482.4(FN1):c.3562A>G (p.Thr1188Ala) SNV
Germline
Chr2:215397179 Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018534RCV005844393

NM_212482.4(FN1):c.3437G>A (p.Gly1146Glu) SNV
Germline
Chr2:215397760 Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018538RCV005336041

NM_212482.4(FN1):c.3106A>G (p.Arg1036Gly) SNV
Germline
Chr2:215404536 Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2
Spondylometaphyseal dysplasia - Sutcliffe type
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024029RCV005575311

NM_212482.4(FN1):c.131C>T (p.Ala44Val) SNV
Germline
Chr2:215435672 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018584RCV006489170

NM_212482.4(FN1):c.87C>A (p.Ser29Arg) SNV
Germline
Chr2:215435716 Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type
Glomerulopathy with fibronectin deposits 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005024047RCV005112757

NM_212482.4(FN1):c.637T>C (p.Cys213Arg) SNV
Germline
Chr2:215430763 Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type Criteria Provided
Single Submitter

1 SubmittersRCV005431040